Linked Data
dbSNP Id:
rs375205989
ExAC:
3:193185231 T / C
gnomAD v2:
3-193185231-T-C
gnomAD v3:
3-193467442-T-C
gnomAD v4:
3-193467442-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193467442T>C , CM000665.2:g.193467442T>C | GRCh38 |
| NC_000003.11:g.193185231T>C , CM000665.1:g.193185231T>C | GRCh37 |
| NC_000003.10:g.194667925T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342695.9:c.988A>G MANE Select | ENSP00000339182.4:p.Ser330Gly | |
| ENST00000295548.3:c.988A>G | ENSP00000295548.3:p.Ser330Gly | |
| ENST00000342695.8:c.988A>G | ENSP00000339182.4:p.Ser330Gly | |
| ENST00000392443.7:c.988A>G | ENSP00000376238.3:p.Ser330Gly | |
| ENST00000450950.6:c.*431A>G | ENSP00000402023.2:n.*431A>G | |
| ENST00000490925.5:n.1096A>G | ||
| NM_032279.3:c.988A>G | NP_115655.2:p.Ser330Gly | |
| XM_005247829.2:c.988A>G | XP_005247886.1:p.Ser330Gly | |
| XM_011513232.1:c.988A>G | XP_011511534.1:p.Ser330Gly | |
| XR_241512.2:n.1289A>G | ||
| XR_924191.1:n.1289A>G | ||
| XM_011513232.2:c.988A>G | XP_011511534.1:p.Ser330Gly | |
| XM_017007318.1:c.661A>G | XP_016862807.1:p.Ser221Gly | |
| XM_017007319.1:c.988A>G | XP_016862808.1:p.Ser330Gly | |
| XR_001740324.2:n.1058A>G | ||
| XR_001740325.1:n.1058A>G | ||
| XR_002959602.1:n.1222A>G | ||
| XR_924191.3:n.1058A>G | ||
| NM_032279.4:c.988A>G MANE Select | NP_115655.2:p.Ser330Gly |